Results 131 to 140 of about 18,146 (216)

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]

Clin Case Rep
Alanzi A, Alatefi D, Alkabazi M, Alsaleh B, Fouad A, Al Oraby I.   +5 more
europepmc   +1 more source

Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review. [PDF]

Clin Exp Pediatr
Ghosh U, Agrawal A, Srinivasan VM, Manisha R, Shukla U, Jain V, Nilay M, Kumar H.   +7 more
europepmc   +1 more source

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Journal of Investigative Dermatology, 2017
H. Vahidnezhad, L. Youssefian, A. Saeidian, S. Zeinali, P. Mansouri, S. Sotoudeh, M. Barzegar, J. Mohammadi-Asl, Razieh Karamzadeh, M. Abiri, K. McCormick, P. Fortina, J. Uitto   +12 more
semanticscholar   +1 more source

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +1 more source

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]

Clin Case Rep
Nagshabandi KN, Alsalhi A.
europepmc   +1 more source

Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases. [PDF]

Cell Tissue Res
Li Z, Wang S, Blaydon DC, Kelsell DP.
europepmc   +1 more source

Establishing and Validating an Ichthyosis Severity Index.

Journal of Investigative Dermatology, 2017
N. Marukian, Yanhong Deng, Geliang Gan, Ivy Ren, Wisblaude Thermidor, B. Craiglow, L. Milstone, K. Choate   +7 more
semanticscholar   +1 more source

An infant of KID syndrome along with Dandy-Walker malformation (DWM). [PDF]

JAAD Case Rep
Mondal A.
europepmc   +1 more source

FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]

Clin Case Rep
Ahmadi R, Bavarsad MJ, Feizollah Jani M, Azizimalamiri R.   +3 more
europepmc   +1 more source

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]

Anim Genet
Vinberg C, Rietmann SJ, Soto S, Jagannathan V, Åhman S, Leeb T.   +5 more
europepmc   +1 more source